Disease Information for Klipple-Feil syndrome

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Clinical Manifestations
Signs & Symptoms
Congenital low hairline
Facial Asymmetry
Short neck/Brevicollis
Webbed neck deformity/Broad neck
Difficulty flexing neck
Headache in children
Asymmetric Limbs
Cervical kyphosis sign
Cervical spine/neck limited motion
Macrocephaly/Large head
Megalocephaly
Spine pain/vertebral skeletal pain
Upper back skeletal deformity/signs
Difficult intubations/anatomic
Snoring
Lateral Asymmetry
Moves head to see/not eyes/stiff collar look
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Anomalous rib cage/congenital
Xray/Ribs Abnormal/Deformities
Xray/Spine Abnormal
Associated Diseases & Rule outs
Rule Outs
Turner syndrome
Associated Disease & Complications
Atrial septal defect
Coarctation of aorta
Congenital urinary tract malformations
Congenitally fused cervical vertebrae
Deafness
Deafness, congenital
Fused Neck Vertebrae Anomalies
Hemivertebrae Neck Anomalies
Klippel-Feil syndrome
Kyphoscoliosis
Kyphosis
Obstructive sleep apnea/Children
Platybasia
Renal anomalies
Rib anomalies/Hypoplastic/deformed
Skeletal dysplasia
Skeletal/bone malformations
Sprengel deformity
Thoracic deformity/congenital
Torticollis, acquired
Torticollis, congenital
Vertebrae Anomalies
Torticollis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Axial skeletal involvement/disorder (ex)
CLASS/Skeletal (category)
CLASS/Vertebra/Spine disorder (ex)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Gene locus 8q22.2-q23.3
Pathophysiology/Gene locus chromosome 8
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

Klippel-Feil Syndrome;Cervical Vertebral Fusion; Congenital Cervical Synostosis;KFS; Subdivisions: Klippel-Feil Syndrome, Type I; Klippel-Feil Syndrome, Type II; Klippel-Feil Syndrome, Type III; This (KFS) is a rare condition that is evident at birth (congenital/genetic); KFS is primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae); Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline); In some individuals with KFS, the condition may be associated with additional physical abnormalities: These may include abnormal curvature of the spine (scoliosis), rib defects, or other skeletal abnormalities; hearing impairment; certain malformations of the head and facial (craniofacial) area; or structural abnormalities of the heart (congenital heart defects); In addition, in some cases, neurological complications may result due to associated spinal cord injury; In most individuals with KFS, the condition appears to occur randomly for unknown reasons (sporadically); However, in other cases, KFS may be inherited as an autosomal dominant or autosomal recessive trait---------(NORD 2005)---------

Klippel-Feil deformity; Klippel-Feil syndrome; Feil-Klippel syndrome; Klippel-Feil anomalad; Klippel-Feil phenotype;

Congenital brevicollis, congenital cervicothoracic vertebrae synostosis, congenital osseus-torticollis syndrome, congenital webbed neck syndrome, congenital synostosis of cervicothoracic vertebrae syndrome, congenital osseous-torticollis syndrome, dystrophia brevicollis congenita; Congenital anomaly characterized by a reduced number of cervical vertebrae or multiple hemivertebrae fused into a single osseous mass, producing a short and wide neck with limited motion; A low hairline is another constant characteristic;

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External Links Related to Klipple-Feil syndrome
Google
Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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